Sam Baxter

Flyer for ReNU syndrome united detailing the mission (to unite and build community), vision (to empower families) and values (collaboration, connection, innovation, and impact).

I am in absolute awe of the ReNU syndrome families who have rallied and already achieved so much in a few short months. Their drive and dedication is hugely inspiring.

The big milestone of last week: official US charity registration of "ReNU syndrome United" 🎉

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25.11.2024 12:13 — 👍 14    🔁 2    💬 1    📌 0

Genetic counselors working is rare disease - let @nickywhiffin.bsky.social know if you/your colleagues should be a part of this starter pack #genechat

26.11.2024 14:57 — 👍 1    🔁 0    💬 0    📌 0

A special thank you to Nick Watts, Riley Grant & Josephine Lee for lending their software development expertise to this tool. Finally, thank you to @heidirehm.bsky.social and @anneotation.bsky.social for their support and belief in GeniE from the very beginning!! (4/4)

04.06.2024 16:49 — 👍 1    🔁 0    💬 0    📌 0

GeniE, the Genetic Prevalence Estimator | gnomAD browser The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from...

Thank you to everyone who contributed to this project (broad.io/genie_blog_a...), but especially our co-developers Chan Zuckerberg Initiative's #RareAsOne Network. This tool was inspired by the rare disease advocacy community and I am so grateful to count you all as collaborators (3/4)

04.06.2024 16:47 — 👍 0    🔁 0    💬 1    📌 0

Not only can users use the tool to create their own estimates, but they can also use the GeniE dashboard to browse preliminary genetic prevalence estimates, based on our standardized script, as well search for expert-curated public lists (2/4)

04.06.2024 16:46 — 👍 0    🔁 0    💬 1    📌 0

This release is 6 years in the making! I am so excited to finally share GeniE, the genetic prevalence estimator, with the genetics community. By removing the need for computational expertise, GeniE makes estimating genetic prevalence more standardized and accessible  broad.io/genie (1/4)

04.06.2024 16:46 — 👍 0    🔁 0    💬 1    📌 0

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD v4 finally launched. An open-source dataset of this scale is going make a difference for patients and families with rare disease #genechat

01.11.2023 19:16 — 👍 11    🔁 2    💬 0    📌 0